Identification of a novel large deletion mutation in the AVPR2 gene responsible for hereditary nephrogenic diabetes insipidus in an infant: a case report
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Background: Hereditary nephrogenic diabetes insipidus (HNDI) type1 is a rare genetic disorder that results from mutations in the AVPR2 gene, which encodes the arginine vasopressin receptor 2. The primary clinical manifestations o... ...
